Canonical Allele Identifier: CA401205737

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 1682580
• ClinVar RCV Id: RCV002237552
• dbSNP Id: rs2144098553
• gnomAD v4: 17-77402202-T-C
• MyVariant Identifiers: chr17:g.75398284T>C (hg19) ; chr17:g.77402202T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402202T>C , CM000679.2:g.77402202T>C	GRCh38
NC_000017.10:g.75398284T>C , CM000679.1:g.75398284T>C	GRCh37
NC_000017.9:g.72909879T>C	NCBI36
NG_011683.1:g.125793T>C
NG_011683.2:g.125793T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.166T>C MANE Plus Clinical	ENSP00000329161.8:p.Ser56Pro
ENST00000427177.6:c.220T>C MANE Select	ENSP00000391249.1:p.Ser74Pro
ENST00000588690.6:c.-273T>C	ENSP00000468668.1:n.-273T>C
ENST00000590294.6:n.269T>C
ENST00000329047.12:c.166T>C	ENSP00000329161.8:p.Ser56Pro
ENST00000423034.6:c.199T>C	ENSP00000405877.1:p.Ser67Pro
ENST00000427177.5:c.220T>C	ENSP00000391249.1:p.Ser74Pro
ENST00000427674.6:c.-273T>C	ENSP00000403194.1:n.-273T>C
ENST00000431235.6:c.-273T>C	ENSP00000406987.2:n.-273T>C
ENST00000449803.6:c.-273T>C	ENSP00000400181.2:n.-273T>C
ENST00000586812.1:n.279T>C
ENST00000587514.1:n.349T>C
ENST00000588575.1:c.37-135T>C	ENSP00000468090.1:n.37-135T>C
ENST00000588690.5:c.-273T>C	ENSP00000468668.1:n.-273T>C
ENST00000589070.1:c.175T>C	ENSP00000465332.1:p.Ser59Pro
ENST00000589140.1:c.175T>C	ENSP00000466997.1:p.Ser59Pro
ENST00000590059.5:c.25-354T>C	ENSP00000466164.1:n.25-354T>C
ENST00000590294.5:c.166T>C	ENSP00000465464.1:p.Ser56Pro
ENST00000590576.5:c.*220T>C	ENSP00000465600.1:n.*220T>C
ENST00000590586.1:n.325T>C
ENST00000590595.1:c.37-135T>C	ENSP00000465026.1:n.37-135T>C
ENST00000590825.1:c.-273T>C	ENSP00000468244.1:n.-273T>C
ENST00000591198.5:c.163T>C	ENSP00000468406.1:p.Ser55Pro
ENST00000591833.5:c.*215T>C	ENSP00000466684.1:n.*215T>C
ENST00000591934.1:c.241T>C	ENSP00000468504.1:p.Ser81Pro
ENST00000592098.1:n.250T>C
ENST00000592420.1:c.-354T>C	ENSP00000467051.1:n.-354T>C
NM_001113491.1:c.220T>C	NP_001106963.1:p.Ser74Pro
NM_001113492.1:c.-273T>C	NP_001106964.1:n.-273T>C
NM_001113493.1:c.199T>C	NP_001106965.1:p.Ser67Pro
NM_001113494.1:c.-273T>C	NP_001106966.1:n.-273T>C
NM_001293695.1:c.163T>C	NP_001280624.1:p.Ser55Pro
NM_006640.4:c.166T>C	NP_006631.2:p.Ser56Pro
XM_006721643.2:c.-273T>C	XP_006721706.1:n.-273T>C
XM_011524204.1:c.313T>C	XP_011522506.1:p.Ser105Pro
XM_011524205.1:c.310T>C	XP_011522507.1:p.Ser104Pro
XM_011524206.1:c.175T>C	XP_011522508.1:p.Ser59Pro
XM_011524207.1:c.-273T>C	XP_011522509.1:n.-273T>C
NM_001113491.2:c.220T>C MANE Select	NP_001106963.1:p.Ser74Pro
NM_001113493.2:c.199T>C	NP_001106965.1:p.Ser67Pro
NM_001293695.2:c.163T>C	NP_001280624.1:p.Ser55Pro
NM_001113492.2:c.-273T>C	NP_001106964.1:n.-273T>C
NM_006640.5:c.166T>C MANE Plus Clinical	NP_006631.2:p.Ser56Pro